178 related articles for article (PubMed ID: 19161141)
1. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
Carter MT; Picketts DJ; Hunter AG; Graham GE
Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141
[TBL] [Abstract][Full Text] [Related]
2. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
[TBL] [Abstract][Full Text] [Related]
3. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
Jahani-Asl A; Cheng C; Zhang C; Bonni A
Neurobiol Dis; 2016 Dec; 96():227-235. PubMed ID: 27633282
[TBL] [Abstract][Full Text] [Related]
4. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C; Kraus C; Brueton L; Cole T; Degenhardt F; Engels H; Gillessen-Kaesbach G; Graul-Neumann L; Horn D; Hoyer J; Just W; Rauch A; Reis A; Wollnik B; Zeschnigk M; Lüdecke HJ; Wieczorek D
J Med Genet; 2013 Dec; 50(12):838-47. PubMed ID: 24092917
[TBL] [Abstract][Full Text] [Related]
5. A Novel Nonsense Mutation of
Zhang X; Fan Y; Liu X; Zhu MA; Sun Y; Yan H; He Y; Ye X; Gu X; Yu Y
J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):419-425. PubMed ID: 30630810
[TBL] [Abstract][Full Text] [Related]
6. Distinct phenotype of PHF6 deletions in females.
Di Donato N; Isidor B; Lopez Cazaux S; Le Caignec C; Klink B; Kraus C; Schrock E; Hackmann K
Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
[TBL] [Abstract][Full Text] [Related]
7. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Turner G; Lower KM; White SM; Delatycki M; Lampe AK; Wright M; Smith JC; Kerr B; Schelley S; Hoyme HE; De Vries BB; Kleefstra T; Grompe M; Cox B; Gecz J; Partington M
Clin Genet; 2004 Mar; 65(3):226-32. PubMed ID: 14756673
[TBL] [Abstract][Full Text] [Related]
8. A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
Bellad A; Bandari AK; Pandey A; Girimaji SC; Muthusamy B
J Mol Neurosci; 2020 Sep; 70(9):1403-1409. PubMed ID: 32399860
[TBL] [Abstract][Full Text] [Related]
9. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
Kasper BS; Dörfler A; Di Donato N; Kasper EM; Wieczorek D; Hoyer J; Zweier C
Epilepsy Behav; 2017 Apr; 69():104-109. PubMed ID: 28237832
[TBL] [Abstract][Full Text] [Related]
10. A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.
Garcia-Melendo C; Roé E; Rodríguez-Santiago B; Amat-Samaranch V; Cubiró X; Puig L; Boronat S
Pediatr Dermatol; 2021 Jul; 38(4):919-925. PubMed ID: 34041787
[TBL] [Abstract][Full Text] [Related]
11. Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Ahmed R; Sarwar S; Hu J; Cardin V; Qiu LR; Zapata G; Vandeleur L; Yan K; Lerch JP; Corbett MA; Gecz J; Picketts DJ
Hum Mol Genet; 2021 May; 30(7):575-594. PubMed ID: 33772537
[TBL] [Abstract][Full Text] [Related]
12. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
Cheng C; Deng PY; Ikeuchi Y; Yuede C; Li D; Rensing N; Huang J; Baldridge D; Maloney SE; Dougherty JD; Constantino J; Jahani-Asl A; Wong M; Wozniak DF; Wang T; Klyachko VA; Bonni A
Cell Rep; 2018 Nov; 25(6):1404-1414.e6. PubMed ID: 30403997
[TBL] [Abstract][Full Text] [Related]
13. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
Mangelsdorf M; Chevrier E; Mustonen A; Picketts DJ
J Child Neurol; 2009 May; 24(5):610-4. PubMed ID: 19264739
[TBL] [Abstract][Full Text] [Related]
14. Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z; Li F; Ruan K; Zhang J; Mei Y; Wu J; Shi Y
J Biol Chem; 2014 Apr; 289(14):10069-83. PubMed ID: 24554700
[TBL] [Abstract][Full Text] [Related]
15. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB; Fliedner A; Bartsch O; Berland S; Dewenter M; Haug M; Hayes I; Marin-Reina P; Mark PR; Martinez-Castellano F; Maystadt I; Karadurmus D; Steindl K; Wiesener A; Zweier M; Sticht H; Zweier C
Clin Genet; 2022 Sep; 102(3):182-190. PubMed ID: 35662002
[TBL] [Abstract][Full Text] [Related]
16. [A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].
Que YX; Li P; Hu SX
Zhonghua Er Ke Za Zhi; 2021 May; 59(5):414-416. PubMed ID: 33902228
[TBL] [Abstract][Full Text] [Related]
17. Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
McRae HM; Eccles S; Whitehead L; Alexander WS; Gécz J; Thomas T; Voss AK
Development; 2020 Oct; 147(21):. PubMed ID: 32994169
[TBL] [Abstract][Full Text] [Related]
18. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
Miyake N; Tsurusaki Y; Matsumoto N
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):257-61. PubMed ID: 25081545
[TBL] [Abstract][Full Text] [Related]
19. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Visootsak J; Rosner B; Dykens E; Schwartz C; Hahn K; White SM; Szeftel R; Graham JM
J Pediatr; 2004 Dec; 145(6):819-25. PubMed ID: 15580208
[TBL] [Abstract][Full Text] [Related]
20. PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
Rasool D; Burban A; Sharanek A; Madrigal A; Hu J; Yan K; Qu D; Voss AK; Slack RS; Thomas T; Bonni A; Picketts DJ; Soleimani VD; Najafabadi HS; Jahani-Asl A
EMBO Rep; 2024 Mar; 25(3):1256-1281. PubMed ID: 38429579
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]